Canonical Allele Identifier: CA253001

Gene: TMC1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816161G>A , CM000671.2:g.72816161G>A	GRCh38
NC_000009.11:g.75431077G>A , CM000671.1:g.75431077G>A	GRCh37
NC_000009.10:g.74620897G>A	NCBI36
NG_008213.1:g.299361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1714G>A MANE Select	ENSP00000297784.6:p.Asp572Asn
ENST00000644967.1:c.1276G>A	ENSP00000496159.1:p.Asp426Asn
ENST00000645053.1:c.1257+10651G>A	ENSP00000493838.1:n.1257+10651G>A
ENST00000645208.2:c.1714G>A	ENSP00000494684.1:p.Asp572Asn
ENST00000645773.1:c.1588G>A	ENSP00000493698.1:p.Asp530Asn
ENST00000645787.1:n.1857G>A
ENST00000646619.1:c.1276G>A	ENSP00000493726.1:p.Asp426Asn
ENST00000651183.1:c.1276G>A	ENSP00000498723.1:p.Asp426Asn
ENST00000297784.9:c.1714G>A	ENSP00000297784.5:p.Asp572Asn
ENST00000340019.4:c.1714G>A	ENSP00000341433.3:p.Asp572Asn
ENST00000469455.1:n.195G>A
ENST00000486417.5:n.338G>A
NM_138691.2:c.1714G>A	NP_619636.2:p.Asp572Asn
XM_011518213.1:c.2302G>A	XP_011516515.1:p.Asp768Asn
XM_017014256.1:c.1717G>A	XP_016869745.1:p.Asp573Asn
NM_138691.3:c.1714G>A MANE Select	NP_619636.2:p.Asp572Asn